Zoekresultaten - Funke, Birgit

Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis door Choudhry, Priya, Joshi, Deepa, Funke, Birgit, Trede, Nikolaus

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The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers door Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.

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Dilated Cardiomyopathy door Lakdawala, Neal K., Winterfield, Jeffery R., Funke, Birgit H.

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Targeted Sequencing Using Affymetrix CustomSeq Arrays door Teekakirikul, Polakit, Cox, Stephanie, Funke, Birgit, Rehm, Heidi L.

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NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes door Ceyhan-Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason-Suares, Heather

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Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy door McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan

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DTNBP1 Genotype Influences Cognitive Decline in Schizophrenia door Burdick, Katherine E., Goldberg, Terry E., Funke, Birgit, Bates, John A., Lencz, Todd, Kucherlapati, Raju, Malhotra, Anil K.

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Association of the DTNBP1 Locus with Schizophrenia in a U.S. Population door Funke, Birgit, Finn, Christine T., Plocik, Alex M., Lake, Stephen, DeRosse, Pamela, Kane, John M., Kucherlapati, Raju, Malhotra, Anil K.

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Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project door Wilcox, Emma, Harrison, Steven M., Lockhart, Edward, Voelkerding, Karl, Lubin, Ira M., Rehm, Heidi L., Kalman, Lisa V., Funke, Birgit

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A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice door Hiroi, Noboru, Zhu, Hongwen, Lee, MoonSook, Funke, Birgit, Arai, Makoto, Itokawa, Masanari, Kucherlapati, Raju, Morrow, Bernice, Sawamura, Takehito, Agatsuma, Soh

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NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy door Man, Elim, Lafferty, Katherine A, Funke, Birgit H, Lun, Kin-Shing, Chan, Shu-Yan, Chau, Adolphus Kai-Tung, Chung, Brian Hon-Yin

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VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data door Pugh, Trevor J., Amr, Sami S., Bowser, Mark J., Gowrisankar, Sivakumar, Hynes, Elizabeth, Mahanta, Lisa M., Rehm, Heidi L., Funke, Birgit, Lebo, Matthew S.

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COMT genetic variation confers risk for psychotic and affective disorders: a case control study door Funke, Birgit, Malhotra, Anil K, Finn, Christine T, Plocik, Alex M, Lake, Stephen L, Lencz, Todd, DeRosse, Pamela, Kane, John M, Kucherlapati, Raju

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A Gender-Moderated Effect of a Functional COMT Polymorphism on Prefrontal Brain Morphology and Function in Velo-cardio-facial Syndrome (22q11.2 Deletion Syndrome) door Kates, Wendy R., Antshel, Kevin M., AbdulSabur, Nuria, Colgan, Deirdre, Funke, Birgit, Fremont, Wanda, Higgins, Anne Marie, Kucherlapati, Raju, Shprintzen, Robert J.

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A Role for the CHC22 Clathrin Heavy Chain Isoform in Human Glucose Metabolism door Vassilopoulos, Stéphane, Esk, Christopher, Hoshino, Sachiko, Funke, Birgit H., Chen, Chih-Ying, Plocik, Alex M., Wright, Woodring E., Kucherlapati, Raju, Brodsky, Frances M.

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Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant door Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H, Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas D., Hong, Charles C.

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Genetic Misdiagnoses and the Potential for Health Disparities door Manrai, Arjun K., Funke, Birgit H., Rehm, Heidi L., Olesen, Morten S., Maron, Bradley A., Szolovits, Peter, Margulies, David M., Loscalzo, Joseph, Kohane, Isaac S.

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Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies door Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.

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Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders door Funke, Birgit H, Lencz, Todd, Finn, Christine T, DeRosse, Pamela, Poznik, G David, Plocik, Alex M, Kane, John, Rogus, John, Malhotra, Anil K, Kucherlapati, Raju

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Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization door Puech, Anne, Saint-Jore, Bruno, Funke, Birgit, Gilbert, Debra J., Sirotkin, Howard, Copeland, Neal G., Jenkins, Nancy A., Kucherlapati, Raju, Morrow, Bernice, Skoultchi, Arthur I.

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